Links from Gene
Items: 1 to 20 of 29668
1.
rs1491574397 has merged into rs532170484 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT
[Show Flanks]
- Chromosome:
- 1:114914415
(GRCh38)
1:115457036
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114914405:TTTTTTTTTTT:TTTTTTTTT,NC_000001.11:114914405:TTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:114914405:TTTTTTTTTTT:TTTTTTTTTTTT
- Gene:
- SYCP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
-=0.000071/2
(TOMMO)
-=0.022067/5841
(TOPMED)
- HGVS:
3.
rs1491434882 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TAAA,TAAAA
[Show Flanks]
- Chromosome:
- 1:114988080
(GRCh38)
1:115530702
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114988080:AA:AATAAA,NC_000001.11:114988080:AA:AATAAAA
- Gene:
- SYCP1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AATAAAA=0.00135/16
(
ALFA)
- HGVS:
5.
rs1491269949 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT
[Show Flanks]
- Chromosome:
- 1:114875172
(GRCh38)
1:115417794
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114875172:T:TGT
- Gene:
- SYCP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGT=0./0
(
ALFA)
TG=0.000035/4
(GnomAD)
- HGVS:
6.
rs1491261649 has merged into rs150956388 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT
[Show Flanks]
- Chromosome:
- 1:114895435
(GRCh38)
1:115438056
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114895426:TTTTTTTTTT:TTTTTTTT,NC_000001.11:114895426:TTTTTTTTTT:TTTTTTTTT,NC_000001.11:114895426:TTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:114895426:TTTTTTTTTT:TTTTTTTTTTTT
- Gene:
- SYCP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0.00061/16
(
ALFA)
T=0.00095/16
(TOMMO)
T=0.00382/7
(Korea1K)
T=0.025/1
(GENOME_DK)
T=0.025/15
(NorthernSweden)
T=0.03525/157
(Estonian)
-=0.03574/179
(1000Genomes)
T=0.0481/48
(GoNL)
- HGVS:
7.
rs1491248988 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 1:114914406
(GRCh38)
1:115457028
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114914406::A
- Gene:
- SYCP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS:
8.
rs1491141237 has merged into rs67335338 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 1:114881078
(GRCh38)
1:115423699
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114881056:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000001.11:114881056:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000001.11:114881056:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000001.11:114881056:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000001.11:114881056:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000001.11:114881056:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000001.11:114881056:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000001.11:114881056:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000001.11:114881056:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000001.11:114881056:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:114881056:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:114881056:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:114881056:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:114881056:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:114881056:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:114881056:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:114881056:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- SYCP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACACACACA=0./0
(
ALFA)
-=0.1567/287
(Korea1K)
- HGVS:
NC_000001.11:g.114881058CA[10], NC_000001.11:g.114881058CA[11], NC_000001.11:g.114881058CA[12], NC_000001.11:g.114881058CA[13], NC_000001.11:g.114881058CA[14], NC_000001.11:g.114881058CA[15], NC_000001.11:g.114881058CA[16], NC_000001.11:g.114881058CA[17], NC_000001.11:g.114881058CA[18], NC_000001.11:g.114881058CA[20], NC_000001.11:g.114881058CA[21], NC_000001.11:g.114881058CA[22], NC_000001.11:g.114881058CA[23], NC_000001.11:g.114881058CA[24], NC_000001.11:g.114881058CA[25], NC_000001.11:g.114881058CA[26], NC_000001.11:g.114881058CA[28], NC_000001.10:g.115423679CA[10], NC_000001.10:g.115423679CA[11], NC_000001.10:g.115423679CA[12], NC_000001.10:g.115423679CA[13], NC_000001.10:g.115423679CA[14], NC_000001.10:g.115423679CA[15], NC_000001.10:g.115423679CA[16], NC_000001.10:g.115423679CA[17], NC_000001.10:g.115423679CA[18], NC_000001.10:g.115423679CA[20], NC_000001.10:g.115423679CA[21], NC_000001.10:g.115423679CA[22], NC_000001.10:g.115423679CA[23], NC_000001.10:g.115423679CA[24], NC_000001.10:g.115423679CA[25], NC_000001.10:g.115423679CA[26], NC_000001.10:g.115423679CA[28]
9.
rs1491107619 has merged into rs746711903 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:114853593
(GRCh38)
1:115396214
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114853582:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:114853582:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:114853582:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:114853582:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:114853582:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:114853582:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:114853582:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:114853582:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:114853582:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:114853582:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:114853582:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:114853582:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:114853582:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:114853582:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:114853582:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:114853582:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:114853582:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:114853582:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:114853582:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:114853582:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:114853582:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SYCP1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
NC_000001.11:g.114853593_114853603del, NC_000001.11:g.114853598_114853603del, NC_000001.11:g.114853599_114853603del, NC_000001.11:g.114853600_114853603del, NC_000001.11:g.114853601_114853603del, NC_000001.11:g.114853602_114853603del, NC_000001.11:g.114853603del, NC_000001.11:g.114853603dup, NC_000001.11:g.114853602_114853603dup, NC_000001.11:g.114853601_114853603dup, NC_000001.11:g.114853600_114853603dup, NC_000001.11:g.114853599_114853603dup, NC_000001.11:g.114853598_114853603dup, NC_000001.11:g.114853597_114853603dup, NC_000001.11:g.114853596_114853603dup, NC_000001.11:g.114853595_114853603dup, NC_000001.11:g.114853594_114853603dup, NC_000001.11:g.114853593_114853603dup, NC_000001.11:g.114853586_114853603dup, NC_000001.11:g.114853603_114853604insTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.114853603_114853604insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.115396214_115396224del, NC_000001.10:g.115396219_115396224del, NC_000001.10:g.115396220_115396224del, NC_000001.10:g.115396221_115396224del, NC_000001.10:g.115396222_115396224del, NC_000001.10:g.115396223_115396224del, NC_000001.10:g.115396224del, NC_000001.10:g.115396224dup, NC_000001.10:g.115396223_115396224dup, NC_000001.10:g.115396222_115396224dup, NC_000001.10:g.115396221_115396224dup, NC_000001.10:g.115396220_115396224dup, NC_000001.10:g.115396219_115396224dup, NC_000001.10:g.115396218_115396224dup, NC_000001.10:g.115396217_115396224dup, NC_000001.10:g.115396216_115396224dup, NC_000001.10:g.115396215_115396224dup, NC_000001.10:g.115396214_115396224dup, NC_000001.10:g.115396207_115396224dup, NC_000001.10:g.115396224_115396225insTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.115396224_115396225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
11.
rs1491025041 has merged into rs34553973 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:114988091
(GRCh38)
1:115530712
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114988080:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:114988080:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:114988080:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:114988080:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:114988080:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:114988080:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:114988080:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:114988080:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:114988080:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:114988080:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:114988080:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:114988080:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:114988080:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:114988080:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:114988080:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:114988080:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:114988080:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:114988080:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:114988080:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:114988080:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:114988080:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:114988080:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:114988080:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:114988080:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:114988080:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:114988080:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:114988080:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:114988080:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SYCP1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.4235/2121
(1000Genomes)
- HGVS:
NC_000001.11:g.114988091_114988096del, NC_000001.11:g.114988093_114988096del, NC_000001.11:g.114988094_114988096del, NC_000001.11:g.114988095_114988096del, NC_000001.11:g.114988096del, NC_000001.11:g.114988096dup, NC_000001.11:g.114988095_114988096dup, NC_000001.11:g.114988094_114988096dup, NC_000001.11:g.114988093_114988096dup, NC_000001.11:g.114988092_114988096dup, NC_000001.11:g.114988091_114988096dup, NC_000001.11:g.114988090_114988096dup, NC_000001.11:g.114988089_114988096dup, NC_000001.11:g.114988088_114988096dup, NC_000001.11:g.114988087_114988096dup, NC_000001.11:g.114988086_114988096dup, NC_000001.11:g.114988085_114988096dup, NC_000001.11:g.114988082_114988096dup, NC_000001.11:g.114988081_114988096dup, NC_000001.11:g.114988096_114988097insAAAAAAAAAAAAAAAAA, NC_000001.11:g.114988096_114988097insAAAAAAAAAAAAAAAAAA, NC_000001.11:g.114988096_114988097insAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.114988096_114988097insAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.114988096_114988097insAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.114988096_114988097insAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.114988096_114988097insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.114988096_114988097insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.114988081_114988096A[21]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.115530712_115530717del, NC_000001.10:g.115530714_115530717del, NC_000001.10:g.115530715_115530717del, NC_000001.10:g.115530716_115530717del, NC_000001.10:g.115530717del, NC_000001.10:g.115530717dup, NC_000001.10:g.115530716_115530717dup, NC_000001.10:g.115530715_115530717dup, NC_000001.10:g.115530714_115530717dup, NC_000001.10:g.115530713_115530717dup, NC_000001.10:g.115530712_115530717dup, NC_000001.10:g.115530711_115530717dup, NC_000001.10:g.115530710_115530717dup, NC_000001.10:g.115530709_115530717dup, NC_000001.10:g.115530708_115530717dup, NC_000001.10:g.115530707_115530717dup, NC_000001.10:g.115530706_115530717dup, NC_000001.10:g.115530703_115530717dup, NC_000001.10:g.115530702_115530717dup, NC_000001.10:g.115530717_115530718insAAAAAAAAAAAAAAAAA, NC_000001.10:g.115530717_115530718insAAAAAAAAAAAAAAAAAA, NC_000001.10:g.115530717_115530718insAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.115530717_115530718insAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.115530717_115530718insAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.115530717_115530718insAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.115530717_115530718insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.115530717_115530718insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.115530702_115530717A[21]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
12.
rs1490995073 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AGCTCACC
[Show Flanks]
- Chromosome:
- 1:114927888
(GRCh38)
1:115470510
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114927888:CAGCTCACC:CAGCTCACCAGCTCACC
- Gene:
- SYCP1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CAGCTCACCAGCTCACC=0./0
(
ALFA)
CAGCTCAC=0.000004/1
(TOPMED)
CAGCTCAC=0.000014/2
(GnomAD)
- HGVS:
13.
rs1490977270 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:114867084
(GRCh38)
1:115409705
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114867083:A:G
- Gene:
- SYCP1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490974260 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:114906694
(GRCh38)
1:115449315
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114906693:T:C
- Gene:
- SYCP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490969490 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:114929053
(GRCh38)
1:115471674
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114929052:C:T
- Gene:
- SYCP1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
18.
rs1490911009 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:114892642
(GRCh38)
1:115435263
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114892641:C:T
- Gene:
- SYCP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490902148 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:114908972
(GRCh38)
1:115451593
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114908971:T:C
- Gene:
- SYCP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490900573 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
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- Chromosome:
- 1:114945014
(GRCh38)
1:115487635
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114945013:A:T
- Gene:
- SYCP1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: